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Genome-wide association studies in asthma; perhaps, the end of the beginning

Lockett, Gabrielle A.; Holloway, John W.

Current Opinion in Allergy and Clinical Immunology: October 2013 - Volume 13 - Issue 5 - p 463–469
doi: 10.1097/ACI.0b013e328364ea5f
GENETICS AND EPIDEMIOLOGY: Edited by Catherine Laprise and Emmanuelle Bouzigon

Purpose of review A large number of genetic loci contribute towards an individual's susceptibility to asthma and other complex diseases. Genome-wide association studies (GWASs) have provided us with a wealth of loci associated with asthma susceptibility, asthma endotypes and responsiveness to asthma medications. The reproducibility of these genetic loci across different studies highlights the interplay of general and population-specific risk alleles in asthma. Although GWASs have been successful in identifying disease-associated loci, there is still large potential for such studies to provide further insights into asthma pathogenesis.

Recent findings GWASs over the past year have extended study design well beyond the simple case–control and continuous phenotype association formats, for example, including interactions with environmental factors, integrating GWAS data with epigenetic data and GWASs in animal models, incorporating pathway analyses and utilising emerging sequencing technologies.

Summary Moving beyond traditional GWAS formats is likely to significantly enhance our understanding of the genetic basis for asthma. This review discusses where we are after half a decade of asthma GWASs, and focuses on advances over the past year that show where the GWAS field is headed in the future.

aHuman Development and Health

bClinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, UK

Correspondence to Professor John W. Holloway, Duthie Building, MP808, Southampton General Hospital, Southampton SO16 6YD, United Kingdom. Tel: +44 (0) 23 8079 6421; fax: +44 (0) 23 8079 4264; e-mail:

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